Ghent University Academic Bibliography

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Your filters: cql: author="DE JONGHE, P" or (type exact bookEditor and editor="DE JONGHE, P")

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Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected

W De Ridder, A Azmi, CS Clemen, L Eichinger, A Hofmann, R Schröder, K Johnson, A Töpf, V Straub, P De Jonghe, et al.

(2020) NEUROLOGY. 94(8). p.785-796
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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

D Beijer, T Deconinck, Jan De Bleecker (UGent) , MT Dotti, A Malandrini, JA Urtizberea, M Zulaica, A López de Munain, B Asselbergh, P De Jonghe, et al.

(2019) BRAIN. 142(9). p.2605-2616
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FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

TW Rattay, T Lindig, J Baets, K Smets, T Deconinck, AS Söhn, K Hörtnagel, KN Eckstein, S Wiethoff, J Reichbauer, et al.

(2019) BRAIN. 142(6). p.1561-1572
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

G Coarelli, R Schule, BPC van de Warrenburg, P De Jonghe, C Ewenczyk, A Martinuzzi, M Synofzik, EG Hamer, J Baets, M Anheim, et al.

(2019) NEUROLOGY. 92(23). p.e2679-e2690
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BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders

I Nelson, W De Ridder, B Asselbergh, Boel De Paepe (UGent) , M Beuvin, R Ben Yaou, A Boland, J Deleuze, T Maisonobe, B Eymard, et al.

(2018) NEUROMUSCULAR DISORDERS. 28(suppl. 2). p.S107-108
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Database crossing allows better understanding of neuromuscular disorders epidemiology: the Belgian example

C Bleyenheuft, P Van Damme, N Goemans, Jan De Bleecker (UGent) , Rudy Van Coster (UGent) , P De Jonghe, D Beysen, P Van den Bergh, F Christiaens, A Maertens de Noordhout, et al.

(2016) NEUROMUSCULAR DISORDERS. 26(suppl. 2). p.S207-S207
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- Journal Article
- A1
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The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

I Gijselinck, S Van Mossevelde, J van der Zee, Anne Sieben (UGent) , S Engelborghs, Jan De Bleecker (UGent) , A Ivanoiu, O Deryck, D Edbauer, M Zhang, et al.

(2016) MOLECULAR PSYCHIATRY. 21(8). p.1112-1124
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Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

JJT van Harssel, S Weckhuysen, MJA van Kempen, K Hardies, NE Verbeek, CGF de Kovel, WB Gunning, E van Daalen, MV de Jonge, AC Jansen, et al.

(2013) NEUROGENETICS. 14(1). p.23-34
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Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

Elke Bogaert (UGent) , A Goris, P Van Damme, V Geelen, R Lemmens, MA van Es, LH van den Berg, K Sleegers, N Verpoorten, V Timmerman, et al.

(2012) NEUROBIOLOGY OF AGING. 33(2). p.418-420
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Phenotypic spectrum in myopathies with tubular aggregates

F Funk, C Ceuterick-de Groote, JJ Martin, A Meinhardt, Jan De Bleecker (UGent) , P de Jonghe, AL Taratuto, M Saccoliti, J. M. Schroder, JB Schulz, et al.

(2011) NEUROMUSCULAR DISORDERS. 21(9-10). p.692-693

Academic Bibliography

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders

Database crossing allows better understanding of neuromuscular disorders epidemiology: the Belgian example

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

Phenotypic spectrum in myopathies with tubular aggregates

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